Conditions and treatments

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Genetic counsel​ling
The main responsibilities of the department are to provide genetic counsel​ling and work-up of monogenic disorders, congenital malformations and suspected syndromes. Cancer genetic counselling is offered in collaboration with in-hospital and regional departments.

Cytogenetics
The Chromosome Laboratory performs pre- and postnatal chromosome and molecular cytogenetic analyses (MLPA, array CGH, FISH). Preimplantation chromosome analysis is offered in collaboration with the Fertility Department. The Section of Haematology-Oncology performs diagnostic and follow-up cytogenetic analyses (G-banding and FISH) on bone marrow and blood from patients with hematological malignancies. Other samples are analysed for acquired mutations and/or for detection of minimal residual disease by quantitative RT-PCR.

Inborn Errors of Metabolism
The Metabolic Laboratory carries out inborn errors of metabolism, including urine screening, enzyme assays, and prenatal diagnostic tests. Newborns with a positive result through extended biochemical screening are evaluated further via biochemical and molecular genetic analysis. ​Inpatient care facilities, the outpatient Department for Rare Handicaps and the Metabolic Laboratory together make up the Center for Inborn Errors of Metabolism.

Molecular Genetics
The Molecular Genetic Laboratory performs pre-and postnatal DNA analyses of more than 100 rare mendelian disorders. Special interests include pediatric, metabolic, mitochondrial, and neuromuscular disorders. Preimplantation genetic diagnosis is offered in collaboration with the Fertility Department.

Department for Rare Handicaps
The Department of Clinical Genetics is a regional and national centre for treatment of inborn errors of metabolism and other congenital disorders. The Department for Rare Handicaps is responsible for the highly specialized and coordinated outpatient follow-up and treatment of inherited disorders and other rare handicaps, including a large number of different inborn errors of metabolism.

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